Rare Neurology News
Advertisement
Disease Profile
Neuronal intranuclear inclusion disease
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Childhood
ICD-10
G31.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
NIID; Neuronal intranuclear hyaline inclusion disease
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Neuronal intranuclear inclusion disease (NIID) is a slowly progressive, neurodegenerative disease. NIID may affect any part of the nervous system (central, peripheral, and/or autonomic), as well as various
Symptoms of NIID worsen over time and may include
The features of NIID result from the presence of eosinophilic intranuclear inclusions inside neurons and glial
Currently there is no treatment that cures or slows the progression of NIID, but medications that help control symptoms may improve quality of life.[3] While the disease is ultimately fatal, life expectancy can range significantly, from one year to several decades after the diagnosis.[1]
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
0001251 | ||
Difficulty articulating speech
|
0001260 | |
EMG abnormality | 0003457 | |
30%-79% of people have these symptoms | ||
Abnormal form of the vertebral bodies | 0003312 | |
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
0002353 | ||
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypertonia | 0001276 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
0002650 | ||
0001250 | ||
Spina bifida occulta | 0003298 | |
5%-29% of people have these symptoms | ||
Abnormality of the pharynx | 0000600 | |
Optic atrophy | 0000648 | |
1%-4% of people have these symptoms | ||
CSF pleocytosis | 0012229 | |
Decreased motor nerve conduction velocity | 0003431 | |
Decreased sensory nerve conduction velocity | 0003448 | |
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 0003403 | |
Episodic vomiting | 0002572 | |
Increased CSF |
0002922 | |
Leukoencephalopathy | 0002352 | |
Loss of consciousness |
Passing out
|
0007185 |
Miosis |
Constricted pupils
Pupillary constriction
[ more ] |
0000616 |
Muscle weakness |
Muscular weakness
|
0001324 |
Rigidity |
Muscle rigidity
|
0002063 |
Syncope |
Fainting spell
|
0001279 |
Tremor | 0001337 | |
Urinary incontinence |
Loss of bladder control
|
0000020 |
Ventriculomegaly | 0002119 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Sensory impairment | 0003474 |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The differential diagnosis should consider spinocerebellar ataxias, progressive juvenile parkinsonism and dystonia.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Dysautonomia Information Network
PO Box 10057
Swanzey, NH 03446, NH 03446
E-mail: [email protected]
Website: https://www.dinet.org/ -
Dysautonomia International
P.O. Box 596
East Moriches, NY 11940
E-mail: [email protected]
Website: https://www.dysautonomiainternational.org/ -
International Parkinson and Movement Disorder Society
555 East Wells Street, Suite 1100
Milwaukee, WI 53202-3823
Telephone: +1-414-276-2145
Fax: +1-414-276-3349
E-mail: [email protected]
Website: https://www.movementdisorders.org/ -
National Ataxia Foundation
600 Highway 169 South
Suite 1725
Minneapolis, MN 55426
Telephone: +1-763-553-0020
Fax: +1-763-553-0167
E-mail: [email protected]
Website: https://ataxia.org/ -
The Foundation for Peripheral Neuropathy
485 Half Day Road
Suite 350
Buffalo Grove, IL 60089
Telephone: +1-877-883-9942
Fax: +1-847-883-9960
E-mail: https://www.foundationforpn.org/contact-us/
Website: https://www.foundationforpn.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Neuronal intranuclear inclusion disease. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S, et al. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain. 2016 Dec; 139(12):3170-3186.
- McFadden K, Hamilton RL, Insalaco SJ, Lavine L, Al-Mateen M, Wang G, Wiley CA. Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. J Neuropathol Exp Neurol. 2005 Jun;64(6):545-52.
References
- Sone J, Mori K, Inagaki T, et al. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain. December, 2016; 139(12):3170-3186. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382941/.
- Lai SC, Jung SM, Grattan-Smith P, et al. Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia.. Mov Disord. July 15, 2010; 25(9):1274-1279. https://www.ncbi.nlm.nih.gov/pubmed/20629123.
- Fontaine B. Neuronal intranuclear inclusion disease. Orphanet. 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289.
- Takahashi-Fujigasaki J, Nakano Y, Uchino A, Murayama S. Adult-onset neuronal intranuclear hyaline inclusion disease is not rare in older adults. Geriatr Gerontol Int. March, 2016; Suppl 1:51-56. https://www.ncbi.nlm.nih.gov/pubmed/27018283.
- Sone J, Mitsuhashi S, Fujita A, Mizuuchi T et al. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nature Genet. Aug 2019; 51(8):1215-1221. https://www.pubmed.ncbi.nlm.nih.gov/31332381.
Rare Neurology News